Variant (rsID / SNP)

rs202166915

rs202166915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDHA1. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PDHA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp22.12
HGVS: NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)
Allele change: Missense_V269I

Associated conditions / phenotypes

Inborn genetic diseases|Pyruvate dehydrogenase E1-alpha deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.